Case report of a young patient with transthyretin amyloidosis associated with Gly67Ala mutation
Yükleniyor...
Dosyalar
Tarih
2019
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Taylor & Francis Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Hereditary transthyretin-mediated amyloidosis (hATTR) is a
rare, systemic and progressive autosomal dominant disease
caused by mutations in the TTR gene. Systemic deposition
of amyloidogenic mutant transthyretin results in organ dysfunction
[1]. While the Val30Met has been considered to be
the most common mutation there have been more than 120
amyloidogenic TTR mutations reported worldwide [2].
Phenotypic expression of hATTR is heterogeneous and
influenced by TTR genotype, geographic location and other
genetic and environmental factors [3]. The heterogeneity of
this rare disease makes its diagnosis challenging.
Açıklama
16th International Symposium on Amyloidosis (ISA) -- MAR 26-29, 2018 -- Kumamoto, JAPAN
Anahtar Kelimeler
Kaynak
Amyloid-Journal of Protein Folding Disorders
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
26
Sayı
Künye
Salihoglu, A., Yildirim, S., Ar, M. C., Hancer, V. S., Bozcan, S., Yilmaz, U., ... & Celik, A. F. (2019). Case report of a young patient with transthyretin amyloidosis associated with Gly67Ala mutation. Amyloid, 26(sup1), 75-76.
